Genomic Profiling of Genetic and Rare Diseases (GEN&RARE)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Genetic Disease; Rare Diseases

Treatments: Genetic: Whole Exome Sequencing (WES)

Study type: Interventional

Funder types: Other

Identifiers

NCT06926127

6987

Details and patient eligibility

About

In Italy, over 2 million patients are affected by Rare Diseases (RD), which pose significant challenges due to their clinical diversity, long diagnostic processes (often 4-5 years), and high socio-healthcare costs. The Italian healthcare system has recognized these challenges, leading to initiatives like a national Rare Diseases (RD) registry, a comprehensive list of Rare Diseases (RDs) eligible for healthcare exemptions, and the establishment of a National Committee for Rare Diseases. Research on the genetic mechanisms of Rare Diseases (RDs) is robust, particularly for innovative therapies, and ranks second to oncology.

The Policlinico Universitario A. Gemelli IRCCS Foundation serves as a key reference institute for Rare Diseases (RD) in Lazio, managing over 10,000 patients through accredited centers. A recent initiative aims to enhance the Rare Diseases network by integrating genomic knowledge with clinical practice. The project focuses on utilizing Next Generation Sequencing (NGS) for early genetic diagnosis, promoting personalized medicine.

Given the challenges the National Health Service faces in resource allocation for Rare Diseases (RD) and the recent approval of a new outpatient healthcare tariff, this initiative is timely. The foundation seeks to replace targeted genetic tests with Whole Exome Sequencing (WES), increasing the identification of molecular conditions and reducing diagnostic turnaround times.

Enrollment: 1,500 estimated patients

Sex: All

Ages: 1 minute to 90 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Age 0-90 years
• Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis
• Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition
• Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results
• Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway.

Exclusion criteria

• Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

1,500 participants in 1 patient group

Patients

Experimental group

Description:

Patients with suspected rare or specific genetic diseases diagnosed based on clinical presentation and instrumental examination performed by geneticist or by a specialist physician experienced in the specific condition (e.g., phenotype associated with a known genetic syndrome, known neuromuscular disease, or known specific regional disease such as hypertrophic/dilated cardiomyopathy) are enrolled to undergo genetic testing for diagnostic purposes and to improve personalized treatment.

Treatment:

Genetic: Whole Exome Sequencing (WES)